Incidental Mutation 'IGL02997:Arsa'
ID407170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arsa
Ensembl Gene ENSMUSG00000022620
Gene Namearylsulfatase A
SynonymsAs2, As-2, ASA, AS-A
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.162) question?
Stock #IGL02997
Quality Score
Status
Chromosome15
Chromosomal Location89472476-89477425 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89474038 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 356 (D356G)
Ref Sequence ENSEMBL: ENSMUSP00000127646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165199]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000023292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136218
Predicted Effect probably damaging
Transcript: ENSMUST00000165199
AA Change: D356G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127646
Gene: ENSMUSG00000022620
AA Change: D356G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Sulfatase 20 345 4.2e-79 PFAM
Pfam:Sulfatase_C 367 501 1.9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168052
Predicted Effect unknown
Transcript: ENSMUST00000168270
AA Change: D47G
SMART Domains Protein: ENSMUSP00000130574
Gene: ENSMUSG00000022620
AA Change: D47G

DomainStartEndE-ValueType
Pfam:Sulfatase 1 37 1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168835
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous mice exhibit impaired balance and spatial learning ability. Sulfatide accumulates in the white matter of the brain and a reduced myelin sheath thickness in the corpus callosum and optic nerves is seen. A low frequency of head tremor develops after 2 years of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 110,075,533 probably benign Het
Adamts15 T C 9: 30,906,057 probably benign Het
Cmbl A G 15: 31,585,344 K113E probably benign Het
Cmklr1 T C 5: 113,614,640 D100G probably benign Het
Col23a1 T A 11: 51,577,152 C517S probably damaging Het
Diexf T C 1: 193,120,584 Q275R probably benign Het
Frem1 T A 4: 82,934,968 L1699F probably damaging Het
Ganab A G 19: 8,915,412 D900G probably benign Het
Glrp1 T C 1: 88,509,785 probably benign Het
Gm7030 A G 17: 36,127,836 V221A possibly damaging Het
Grasp T C 15: 101,231,018 S216P probably damaging Het
Gys2 A T 6: 142,449,469 D423E probably damaging Het
Hp C A 8: 109,575,786 V177F probably damaging Het
Isoc1 T C 18: 58,671,444 probably benign Het
Kif18b A G 11: 102,909,084 L513P probably damaging Het
Kifc2 T C 15: 76,664,339 V342A possibly damaging Het
Krt78 A T 15: 101,947,163 S738T probably benign Het
Lats1 A G 10: 7,702,254 N381D possibly damaging Het
Masp2 C A 4: 148,603,175 probably benign Het
Mybpc1 G T 10: 88,526,373 N982K probably damaging Het
Ncor2 A T 5: 125,119,570 probably benign Het
Nkg7 T C 7: 43,437,867 F133L probably damaging Het
Nlrp1a A T 11: 71,123,665 I253N probably damaging Het
Nlrp4e G T 7: 23,301,374 Q31H probably benign Het
Olfr1184 A C 2: 88,487,388 I219L probably damaging Het
Orc6 T A 8: 85,306,208 probably benign Het
Pbrm1 C T 14: 31,061,551 L542F probably damaging Het
Pcdh10 T C 3: 45,379,362 I37T probably damaging Het
Pex5l C A 3: 32,955,842 probably benign Het
Prl2b1 A G 13: 27,385,104 probably benign Het
Rnf168 G A 16: 32,285,421 E146K probably damaging Het
Rsph6a T G 7: 19,054,839 L32R probably benign Het
Scaper C T 9: 55,815,499 R675H probably damaging Het
Sf3a2 G A 10: 80,803,620 R148H probably damaging Het
Shank2 A G 7: 144,081,873 N328S probably benign Het
Smurf1 T A 5: 144,898,005 R153* probably null Het
Sorcs2 C T 5: 36,068,148 V126M probably damaging Het
Trav7d-4 T C 14: 52,770,256 S69P probably damaging Het
Trh G T 6: 92,243,134 probably benign Het
Utp20 A G 10: 88,814,034 V438A probably benign Het
Wdfy3 T C 5: 101,894,912 E1991G probably null Het
Other mutations in Arsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02079:Arsa APN 15 89473351 missense probably benign 0.04
IGL02381:Arsa APN 15 89475537 nonsense probably null
IGL02416:Arsa APN 15 89474788 missense probably damaging 1.00
R0066:Arsa UTSW 15 89474336 missense possibly damaging 0.88
R0066:Arsa UTSW 15 89474336 missense possibly damaging 0.88
R0630:Arsa UTSW 15 89474004 splice site probably benign
R1052:Arsa UTSW 15 89475177 missense probably damaging 1.00
R1079:Arsa UTSW 15 89474225 splice site probably benign
R1807:Arsa UTSW 15 89475322 missense possibly damaging 0.54
R1943:Arsa UTSW 15 89473539 missense probably damaging 1.00
R2231:Arsa UTSW 15 89475722 start codon destroyed probably null
R5099:Arsa UTSW 15 89475339 missense probably damaging 1.00
R5461:Arsa UTSW 15 89473275 missense probably benign
R6259:Arsa UTSW 15 89475521 missense probably damaging 1.00
R7159:Arsa UTSW 15 89474718 splice site probably null
R7188:Arsa UTSW 15 89475627 nonsense probably null
R7735:Arsa UTSW 15 89474949 nonsense probably null
R7943:Arsa UTSW 15 89474089 missense probably damaging 1.00
R8127:Arsa UTSW 15 89474864 missense probably damaging 1.00
R8287:Arsa UTSW 15 89473390 missense probably benign 0.23
Posted On2016-08-02